Canonical Allele Identifier: CA368986685
Gene: CFTR HGNC NCBI

Linked Data

ClinVar Variation Id: 1163871
dbSNP Id: rs193922508

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117603636G>T , CM000669.2:g.117603636G>T GRCh38
NC_000007.13:g.117243690G>T , CM000669.1:g.117243690G>T GRCh37
NC_000007.12:g.117030926G>T NCBI36
NG_016465.4:g.142853G>T , LRG_663:g.142853G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000647720.2:c.2762G>T ENSP00000497673.2:p.Gly921Val
ENST00000647978.2:c.*2476G>T ENSP00000497658.1:n.*2476G>T
ENST00000649781.2:c.2579G>T ENSP00000497203.1:p.Gly860Val
ENST00000685018.2:c.2762G>T ENSP00000510194.2:p.Gly921Val
ENST00000687278.2:c.2762G>T ENSP00000509593.2:p.Gly921Val
ENST00000699585.1:c.2762G>T ENSP00000514456.1:p.Gly921Val
ENST00000699598.1:c.2762G>T ENSP00000514467.1:p.Gly921Val
ENST00000699599.1:c.2762G>T ENSP00000514468.1:p.Gly921Val
ENST00000699600.1:c.2762G>T ENSP00000514469.1:p.Gly921Val
ENST00000699601.1:c.*1062G>T ENSP00000514470.1:n.*1062G>T
ENST00000699602.1:c.2762G>T ENSP00000514471.1:p.Gly921Val
ENST00000699604.1:c.*2586G>T ENSP00000514472.1:n.*2586G>T
ENST00000699605.1:c.2336G>T ENSP00000514473.1:p.Gly779Val
ENST00000687278.1:c.353G>T ENSP00000509593.1:p.Gly118Val
ENST00000003084.11:c.2762G>T MANE Select ENSP00000003084.6:p.Gly921Val
ENST00000647720.1:c.412G>T
ENST00000648260.1:c.1544G>T ENSP00000497957.1:p.Gly515Val
ENST00000649406.1:c.2579G>T ENSP00000497965.1:p.Gly860Val
ENST00000649781.1:c.2579G>T ENSP00000497203.1:p.Gly860Val
ENST00000003084.10:c.2762G>T ENSP00000003084.6:p.Gly921Val
ENST00000426809.5:c.2672G>T ENSP00000389119.1:p.Gly891Val
NM_000492.3:c.2762G>T , LRG_663t1:c.2762G>T NP_000483.3:p.Gly921Val
XM_011515751.1:c.2852G>T XP_011514053.1:p.Gly951Val
XM_011515752.1:c.2852G>T XP_011514054.1:p.Gly951Val
XM_011515753.1:c.2519G>T XP_011514055.1:p.Gly840Val
XM_011515754.1:c.2519G>T XP_011514056.1:p.Gly840Val
NM_000492.4:c.2762G>T MANE Select NP_000483.3:p.Gly921Val